{"Name":"Yellow nail syndrome","DiseaseID__c":"GARD:0000184","id":184,"encodedName":"yellow-nail-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Yellow nail syndrome","Xref_IDs__c":"400211001; C0221348; C85238; D056684; DOID:0050468; L60.5; MEDGEN:113164; MONDO:0007921; OMIM:153300; ORPHA:662","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007921","Disease_Description__c":"A rare, syndromic nail anomaly disease characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.","GARD_Name__c":"Yellow nail syndrome","GARD_Synonym__c":"hereditary lymphedema and yellow nails; lymphedema and yellow nails; lymphedema with yellow nails; yns","Curated_Disease_Description_Source__c":"GARD:0000184","Curated_Disease_Description__c":"Yellow nail syndrome is a very rare disorder characterized by three features: yellow nail discoloration, respiratory problems, and lower limb swelling (lymphedema). In addition to being yellow, nails may lack a cuticle, grow very slowly, and become detached (onycholysis). Respiratory problems may include chronic cough, bronchiectasis, and pleural effusion. Chronic sinusitis may also occur. The cause of Yellow nail syndrome remains unknown. It usually occurs on its own, but is sometimes associated with autoimmune disease, lymphatic diseases, or cancers.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:662","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007921","ORPHANET_ID__c":"ORPHA:662","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Linfedema y uñas amarillas","Spanish_Description_Source__c":"ORPHA:662","Spanish_Description__c":"Es una rara enfermedad sindrómica de anomalías de las uñas caracterizada por la tríada variable de uñas amarillas características, manifestaciones respiratorias crónicas y linfedema primario.","Spanish_Disease_Name__c":"linfedema y uñas amarillas","Spanish_GARD_Synonym__c":"síndrome de las uñas amarillas","Category_Linearization__c":"ORPHA:97955","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Yellow nail syndrome is a very rare disorder characterized by three features: yellow nail discoloration, respiratory problems, and lower limb swelling (lymphedema). In addition to being yellow, nails may lack a cuticle, grow very slowly, and become detached (onycholysis). Respiratory problems may include chronic cough, bronchiectasis, and pleural effusion. Chronic sinusitis may also occur. The cause of Yellow nail syndrome remains unknown. It usually occurs on its own, but is sometimes associated with autoimmune disease, lymphatic diseases, or cancers.","Curated_Disease_Description_Source__c":"GARD:0000184","GARD_Synonym__c":"hereditary lymphedema and yellow nails; lymphedema and yellow nails; lymphedema with yellow nails; yns","Name":"Yellow nail syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Lung Association","Website__c":"https://www.lung.org/"},{"Account_Name__c":"National Lymphedema Network","Website__c":"https://lymphnet.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:662"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:662"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:662"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0221348","Source__c":"C0221348","Xref__c":"C0221348"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C056684","Source__c":"C0221348; MONDO:0007921","Xref__c":"D056684"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=113164","Source__c":"C0221348","Xref__c":"MEDGEN:113164"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400211001","Source__c":"C0221348; MONDO:0007921","Xref__c":"400211001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050468","Source__c":"MONDO:0007921","Xref__c":"DOID:0050468"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85238","Source__c":"C0221348; MONDO:0007921","Xref__c":"C85238"},{"URL__c":"https://www.omim.org/entry/153300","Source__c":"C0221348; MONDO:0007921; ORPHA:662","Xref__c":"OMIM:153300"},{"URL__c":"https://www.orpha.net/en/disease/detail/662","Source__c":"C0221348; MONDO:0007921; ORPHA:662","Xref__c":"ORPHA:662"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L60.5","Source__c":"MONDO:0007921","Xref__c":"L60.5"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007921","Source__c":"GARD:0000184","Xref__c":"MONDO:0007921"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CELSR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Congenital underdevelopment of lymph vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003759","HPO_Synonym__c":"Underdeveloped lymphatic vessels","HPO_Name__c":"Hypoplasia of lymphatic vessels","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009726","HPO_Synonym__c":"Neoplasia of the kidneys; Renal tumors","HPO_Name__c":"Renal neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Detachment of the nail from the nail bed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001806","HPO_Synonym__c":"Detachment of nail; Oncholysis","HPO_Name__c":"Onycholysis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the development of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100798","HPO_Synonym__c":"Abnormal fingernail development; Dysplastic fingernails","HPO_Name__c":"Fingernail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008388","HPO_Synonym__c":"Abnormality of the toenail; Abnormality of the toenails","HPO_Name__c":"Abnormal toenail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the biliary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100574","HPO_Name__c":"Biliary tract neoplasm","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tumor of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100526","HPO_Synonym__c":"Lung tumor","HPO_Name__c":"Neoplasm of the lung","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Yellowish discoloration of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011367","HPO_Synonym__c":"Yellow nails","HPO_Name__c":"Yellow nails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the development of the toenails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100797","HPO_Synonym__c":"Abnormal toenail development; Dysplastic toenails","HPO_Name__c":"Toenail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the pleura.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002102","HPO_Synonym__c":"Inflammation of tissues lining lungs and chest; Pleurisy","HPO_Name__c":"Pleuritis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin that is not localized to any one particular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011354","HPO_Synonym__c":"Generalised abnormality of skin; Generalized abnormality of skin","HPO_Name__c":"Generalized abnormality of skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the nasal mucosa with nasal congestion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012384","HPO_Synonym__c":"Nasal inflammation","HPO_Name__c":"Rhinitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100242","HPO_Synonym__c":"Cancer of connective tissue; Malignant connective tissue tumor","HPO_Name__c":"Sarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000246","HPO_Synonym__c":"Sinus inflammation","HPO_Name__c":"Sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:662","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["hereditary lymphedema and yellow nails"," lymphedema and yellow nails"," lymphedema with yellow nails"," yns"]}